Marti, 2008: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
48
73
n.a.
Dysarthria
Nystagmus (interictal)
Nystagmus
Ataxia
Cerebellar atrophy
Gait ataxia
Ataxia, limb
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n.a.
Yes
n.a.
n.a.
30
39
n.a.
Cerebellar atrophy
Ataxia
Dysarthria
Muscle weakness
Ataxia, limb
Headache
Vertigo
Nystagmus (interictal)
-Muscle weakness (ictal)
Ataxia (ictal)
Gait ataxia
Vertigo (ictal)
-Gait ataxia (ictal)
Hemiplegia
Nystagmus
Migraine
-Gait ataxia (interictal)
-Limb ataxia (interictal)
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n.a.